戊二酸尿症Ⅰ型的诊治进展

发育医学电子杂志

2013, Vol. 1

Issue (3): 176-179

结构畸形综述

戊二酸尿症Ⅰ型的诊治进展

王永霞何玺玉

北京军区总医院附属八一儿童医院肾病免疫科，北京100700

Advances on diagnosis and treatment of glutaric aciduria typeI

WANG Yong-xia,HE Xi-yu

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摘要戊二酸尿症I型(glutaric aciduria type I，GA一1，OMIN231670)是一种由于戊二酰辅酶A脱氢酶缺陷引起的常染色体隐性遗传病，因尿中排出大量的以戊二酸为主的有机酸而得名。自1975年Goodman等^[1]首次报道了该病后，各国陆续有报道。国外报道该病的发病率为1／10万^[2]。根据尿液中戊二酸的含量可分为低分泌型和高分泌型两种亚型。临床上可不出现任何症状，也可因感染、免疫缺陷、手术等应激诱发急性脑病，典型的神经系统后遗症为纹状体的损伤，其预后和基因型无相关性，而与早期诊断及治疗密切相关^[3]。现介绍近年来GA一1病因及发病机制、临床诊治进展，以增加对该病的认识。

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关键词: 戊二酸尿症I型 ')" href="#">戊二酸尿症I型于编码戊二酰辅酶A脱氢酶基因突变

收稿日期: 2013-06-06 出版日期: 2013-07-30 发布日期: 2019-09-06 期的出版日期: 2013-07-30

通讯作者: 何玺玉aike.baidu.com/item/何玺玉/6862439?fr=aladdin E-mail: hxyjs@yahoo．corn

引用本文:

王永霞何玺玉. 戊二酸尿症Ⅰ型的诊治进展[J]. 发育医学电子杂志, 2013, 1(3): 176-179.
WANG Yong-xia, HE Xi-yu. Advances on diagnosis and treatment of glutaric aciduria typeI. Journal of Developmental Medicine(Electronic Version), 2013, 1(3): 176-179.

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